Canonical Allele Identifier: CA504654872

Gene: BSG

Linked Data

• gnomAD v4: 19-580382-G-A
• MyVariant Identifiers: chr19:g.580382G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.580382G>A , CM000681.2:g.580382G>A	GRCh38
NC_000019.9:g.580382G>A , CM000681.1:g.580382G>A	GRCh37
NC_000019.8:g.531382G>A	NCBI36
NG_007468.1:g.14058G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333511.9:c.576G>A MANE Select	ENSP00000333769.3:p.Val192=
ENST00000346916.9:c.-52G>A	ENSP00000344707.4:n.-52G>A
ENST00000353555.9:c.228G>A	ENSP00000343809.4:p.Val76=
ENST00000571735.3:n.811G>A
ENST00000572899.6:n.269G>A
ENST00000573784.6:c.-52G>A	ENSP00000473393.2:n.-52G>A
ENST00000576925.4:n.1013G>A
ENST00000576984.3:c.-52G>A	ENSP00000473528.2:n.-52G>A
ENST00000613627.5:c.71G>A	ENSP00000484849.2:p.Trp24Ter
ENST00000618112.4:c.228G>A	ENSP00000495088.2:p.Val76=
ENST00000679472.1:c.-52G>A	ENSP00000505067.1:n.-52G>A
ENST00000680065.1:c.-52G>A	ENSP00000506020.1:n.-52G>A
ENST00000680326.1:c.219G>A	ENSP00000505863.1:p.Val73=
ENST00000680552.1:c.228G>A	ENSP00000506321.1:p.Val76=
ENST00000333511.7:c.576G>A	ENSP00000333769.3:p.Val192=
ENST00000346916.8:c.36G>A	ENSP00000344707.3:p.Val12=
ENST00000353555.8:c.228G>A	ENSP00000343809.4:p.Val76=
ENST00000545507.6:c.-52G>A	ENSP00000473664.1:n.-52G>A
ENST00000571735.2:n.825G>A
ENST00000572899.5:n.269G>A
ENST00000573216.5:c.204G>A	ENSP00000458665.1:p.Val68=
ENST00000573784.5:c.-52G>A	ENSP00000473393.1:n.-52G>A
ENST00000576984.2:c.-52G>A	ENSP00000473528.1:n.-52G>A
ENST00000613627.4:c.219G>A	ENSP00000484849.1:p.Val73=
ENST00000614867.2:c.147+803G>A	ENSP00000484624.1:n.147+803G>A
ENST00000618006.4:c.68-264G>A	ENSP00000478958.1:n.68-264G>A
NM_001728.3:c.576G>A	NP_001719.2:p.Val192=
NM_198589.2:c.228G>A	NP_940991.1:p.Val76=
NM_198590.2:c.-52G>A	NP_940992.1:n.-52G>A
NM_198591.2:c.36G>A	NP_940993.1:p.Val12=
XM_005259619.1:c.228G>A	XP_005259676.1:p.Val76=
NM_001322243.1:c.228G>A	NP_001309172.1:p.Val76=
XM_017027173.2:c.576G>A	XP_016882662.1:p.Val192=
NM_001322243.2:c.228G>A	NP_001309172.1:p.Val76=
NM_001728.4:c.576G>A MANE Select	NP_001719.2:p.Val192=
NM_198589.3:c.228G>A	NP_940991.1:p.Val76=
NM_198590.3:c.-52G>A	NP_940992.1:n.-52G>A
NM_198591.3:c.36G>A	NP_940993.1:p.Val12=
NM_198591.4:c.-52G>A	NP_940993.2:n.-52G>A